Gene
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
- HGNC 30605↗(opens in a new tab)
- Ensembl gene ENSG00000109618↗(opens in a new tab)
- NCBI Gene 51091↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p15.2
- Coordinates
- Chromosome 4: 25,120,014–25,160,449 (GRCh38)
- Exons
- 11 exons across 40.4 kb
- Protein
- 501 amino acids
- Also known as
- SLA/LP, SLA, SLA-p35, SecS
- MANE Select transcript
- ENST00000382103.7NM_016955.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
How SEPSECS is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.5 kb of the gene's 40.4 kb; 1,506 of those bases code for the protein.
How a genome test reads SEPSECS
70
positions in SEPSECS where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 40.4 kb of SEPSECS, introns included, not only the 5.5 kb of exons.
Genes linked to the same conditions
- ASAH1N-acylsphingosine amidohydrolase 1Shares 1 condition
- ATP7AATPase copper transporting alphaShares 1 condition
- BICD2BICD cargo adaptor 2Shares 1 condition
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 1 condition
- CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10Shares 1 condition
- DCTN1dynactin subunit 1Shares 1 condition
- DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 1 condition
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 1 condition
- EMILIN1elastin microfibril interfacer 1Shares 1 condition
- EXOSC3exosome component 3Shares 1 condition
- EXOSC8exosome component 8Shares 1 condition
- FBXO38F-box protein 38Shares 1 condition
Traits linked to SEPSECS
The Human Phenotype Ontology lists these as features of the rare conditions SEPSECS can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Cerebellar vermis atrophy
- Epilepsy
- Global developmental delay
- Cerebellar vermis hypoplasia
- Choreoathetosis
- Difficulty sleeping
- Generalized myoclonic seizure
- Hypoplasia of the ventral pons
Show 23 more traits
- Severe global developmental delay
- Small cerebellum
- Infantile spasms
- Motor delay
- Paroxysmal dystonia
- Small brainstem
- Abnormal cortical gyration
- Babinski sign
- Bilateral tonic-clonic seizure with generalized onset
- Dysplastic corpus callosum
- Simple febrile seizure
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Widened cerebellar subarachnoid space
- Cerebellar cyst
- Abnormal periventricular white matter morphology
- Chorea
- Clonus
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed myelination
- IQ less than 20
- Irritability
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SEPSECS gene: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase. Retrieved 17 October 2026, from https://dantelabs.com/genes/sepsecs
Dante Labs. SEPSECS gene: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sepsecs
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